Phenotype: abnormal femur morphology

Definition any structural anomaly of the long bone of the thigh

Synonyms femur dysplasia
Related
Synonyms
  • Broad femoral head
  • Broad femoral head
  • Wide proximal femoral metaphysis
  • Wide proximal femoral metaphysis
  • Excessive femoral anteversion
  • Abnormality of the femoral head
  • Abnormality of the femoral neck or head region
  • Lateral femoral bowing
  • increased femur compact bone thickness
  • Aplasia/Hypoplasia involving the femoral head and neck
  • Wide proximal femoral metaphysis
  • Increased femoral torsion
  • Multicentric ossification of proximal femoral epiphyses
  • Aplasia of the femoral neck
  • decreased diameter of femur
  • Flared femoral metaphysis
  • Hypoplasia of the femoral head
  • Abnormality of the femoral head
  • Abnormality of the femoral metaphysis
  • Short femoral neck
  • Hypoplasia of the lesser trochanter
  • Broad femoral head
  • Lateral displacement of the femoral head
  • Decreased femoral torsion
  • Internal notch of the femoral head
  • Aplasia of the femoral head
  • Short femoral neck
  • Erlenmeyer flask deformity of the femurs
  • Irregular distal femoral epiphysis
  • Hypoplasia of the femoral head
  • Femoral spur
  • Proximal femoral metaphyseal irregularity
  • Irregular capital femoral epiphysis
  • Short femoral neck
  • absent femur
  • Dysplasia of the femoral head
  • Dislocation of the femoral head
  • Dysplasia of the femoral head
  • Coxa vara
  • Aplasia of the femoral neck
  • bowed femur
  • Lateral displacement of the femoral head
  • Coxa valga
  • Abnormality of the epiphysis of the femoral head
  • Broad femoral neck
  • abnormal trochanter morphology
  • Abnormality of the femoral neck
  • Abnormal ossification involving the femoral head and neck
  • Irregular distal femoral epiphysis
  • Femoral bowing
  • Club-shaped distal femur
  • Coxa valga
  • Short femoral neck
  • Hypoplasia of the lesser trochanter
  • Hypoplasia of the femoral head
  • Aplasia of the femoral neck
  • Broad femoral metaphyses
  • Distal femoral metaphyseal irregularity
  • Aplasia of the femoral head
  • Aplasia of the femoral head
  • Hypoplasia of the femoral head
  • Abnormal femoral torsion
  • increased internal diameter of femur
  • decreased diameter of femur
  • Dumbbell-shaped femur
  • decreased internal diameter of femur
  • Club-shaped proximal femur
  • abnormal femur compact bone thickness
  • Abnormality of the distal femoral epiphysis
  • Flat distal femoral epiphysis
  • Flattened femoral head
  • Distal femoral bowing
  • Broad femoral neck
  • Early ossification of capital femoral epiphyses
  • Aplasia/hypoplasia of the femur
  • Aplasia/Hypoplasia involving the femoral head and neck
  • Proximal femoral focal deficiency
  • Flattened femoral head
  • Delayed proximal femoral epiphyseal ossification
  • short femur
  • Hyperplasia of the femoral trochanters
  • Narrow femoral neck
  • Proximal femoral metaphyseal abnormality
  • Disproportionate prominence of the femoral medial condyle
  • Irregular femoral epiphysis
  • Aplasia of the femoral head
  • Femoral bowing present at birth, straightening with time
  • Internal notch of the femoral head
  • Hypoplasia of the lesser trochanter
  • Coxa vara
  • decreased femur compact bone thickness
  • Absent ossification of capital femoral epiphysis
  • Dislocation of the femoral head
  • Femoral aplasia
  • Narrow femoral neck
  • Distal tapering femur
  • Aplasia of the femoral neck
  • Distal femoral bowing
  • Trapezoidal distal femoral condyles
  • Proximal femoral metaphyseal irregularity
  • Short femur
  • Distal femoral metaphyseal abnormality
  • Wide distal femoral metaphysis
  • Small distal femoral epiphysis
  • Hyperplasia of the femoral trochanters
  • Abnormality of the epiphysis of the femoral head
  • Abnormality of femoral epiphysis
  • long femur
  • Lateral femoral bowing
  • Bifid femur
  • Wide distal femoral metaphysis
  • Low femoral bone density
  • Enlargement of the distal femoral epiphysis
  • increased diameter of femur
  • Abnormality of the femoral neck
  • Femoral bowing present at birth, straightening with time
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Phenotype associations stats

0.37% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal femur morphology (15/4009)

0.18% females (7/3982) 0.38% males (15/3999)

Gene variants with abnormal femur morphology

Total number of significant genotype-phenotype associations: 22

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Timp1
Timp1tm1b(EUCOMM)Hmgu
HEM Female Male postnatal abnormal femur morphology X-ray | Femur MRC Harwell | IMPC 0.0
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal femur morphology X-ray | Femur WTSI | IMPC 4.71E-17
Sik3
Sik3tm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal femur morphology X-ray | Femur WTSI | IMPC 4.71E-17
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal femur morphology X-ray | Femur MRC Harwell | IMPC 9.31E-14
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal femur morphology X-ray | Femur MRC Harwell | IMPC 9.31E-14
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal femur morphology X-ray | Femur TCP | IMPC 9.26E-13
Phex
Phexnot yet available
HOM Male postnatal abnormal femur morphology X-Ray | Femur HMGU | EuroPhenome 5.74E-11
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal femur morphology X-Ray | Femur WTSI | EuroPhenome 8.95E-11
Cenpj
Cenpjtm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | MGP 2.85E-6
Bnip2
Bnip2tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Femur WTSI | IMPC 5.69E-6
Slc38a2
Slc38a2tm1a(KOMP)Wtsi
HET Male postnatal abnormal femur morphology X-ray | Femur WTSI | IMPC 5.69E-6
Col1a2
Col1a2tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Femur BCM | IMPC 1.64E-5
Ap4e1
Ap4e1tm1a(KOMP)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | EuroPhenome 3.31E-5
Ogfod1
Ogfod1tm1a(KOMP)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | MGP 8.57E-5
Src
Srctm2a(EUCOMM)Wtsi
HET Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | MGP 8.57E-5

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